Varaico: Literature-Extracted Genetic Variants

LRP1

775 papers

RefSeq Summary

This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form...

Pfam Domains

Ldl_recept_aaa 25–64UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 70–108UCSCLow-density lipoprotein receptor domain class A

EGF_CAaa 150–188UCSCCalcium-binding EGF domain

Ldl_recept_baa 614–657UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 660–708UCSCLow-density lipoprotein receptor repeat class B

FXa_inhibitionaa 807–842UCSCCoagulation Factor Xa inhibitory site

Gene Aliases

HGNC Name

LDL receptor related protein 1

HGNC Previous Symbols

APR; A2MR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_002332.3

p.L9V

c.25C>G

Surrounding Variants

1 paper

NM_002332.3

p.L9L

c.27G>A

1 paper

NM_002332.3

p.L6*

c.17T>A

1 paper

NM_002332.3

p.L12Q

c.35T>A

1 paper

NM_002332.3

p.L12R

c.35T>G

1 paper

NM_002332.3

p.L13L

c.39C>A

1 paper

NM_002332.3

p.T3S

c.8C>G

3 papers

NM_002332.3

p.T3P

c.7A>C

1 paper

NM_002332.3

p.T3A

c.7A>G

1 paper

NM_002332.3

p.L2P

c.5T>C

1 paper

NM_002332.3

p.A15A

c.45T>G

1 paper

NM_002332.3

p.L16Q

c.47T>A

1 paper

NM_002332.3

p.L16R

c.47T>G